Canonical Allele Identifier: CA1788120506

Gene: CHD7

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60860932_60860943delinsAAGAAGATATAG , CM000670.2:g.60860932_60860943delinsAAGAAGATATAG	GRCh38
NC_000008.10:g.61773491_61773502delinsAAGAAGATATAG , CM000670.1:g.61773491_61773502delinsAAGAAGATATAG	GRCh37
NC_000008.9:g.61936045_61936056delinsAAGAAGATATAG	NCBI36
NG_007009.1:g.187153_187164delinsAAGAAGATATAG , LRG_176:g.187153_187164delinsAAGAAGATATAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000695850.1:n.813_824delinsAAGAAGATATAG
ENST00000695851.1:n.17_28delinsAAGAAGATATAG
ENST00000695853.1:c.*696_*707delinsAAGAAGATATAG	ENSP00000512218.1:n.*696_*707delinsAAGAAG...
ENST00000423902.7:c.7637_7648delinsAAGAAGATATAG MANE Select	ENSP00000392028.1:p.Glu2546=
ENST00000423902.6:c.7637_7648delinsAAGAAGATATAG	ENSP00000392028.1:p.Glu2546=
ENST00000524602.5:c.1717-1297_1717-1286delinsAAGAAGATATAG	ENSP00000437061.1:n.1717-1297_1717-1286de...
ENST00000531695.1:n.61_72delinsAAGAAGATATAG
ENST00000618450.1:n.29_40delinsAAGAAGATATAG
NM_001316690.1:c.1717-1297_1717-1286delinsAAGAAGATATAG	NP_001303619.1:n.1717-1297_1717-1286delin...
NM_017780.3:c.7637_7648delinsAAGAAGATATAG	NP_060250.2:p.Glu2546=
XM_011517553.1:c.7727_7738delinsAAGAAGATATAG	XP_011515855.1:p.Glu2576=
XM_011517554.1:c.7727_7738delinsAAGAAGATATAG	XP_011515856.1:p.Glu2576=
XM_011517555.1:c.7724_7735delinsAAGAAGATATAG	XP_011515857.1:p.Glu2575=
XM_011517556.1:c.7699-1264_7699-1253delinsAAGAAGATATAG	XP_011515858.1:n.7699-1264_7699-1253delin...
XM_011517557.1:c.5714_5725delinsAAGAAGATATAG	XP_011515859.1:p.Glu1905=
XM_011517558.1:c.5264_5275delinsAAGAAGATATAG	XP_011515860.1:p.Glu1755=
XM_011517559.1:c.4472_4483delinsAAGAAGATATAG	XP_011515861.1:p.Glu1491=
XM_011517553.2:c.7727_7738delinsAAGAAGATATAG	XP_011515855.1:p.Glu2576=
XM_011517554.3:c.7727_7738delinsAAGAAGATATAG	XP_011515856.1:p.Glu2576=
XM_011517555.2:c.7724_7735delinsAAGAAGATATAG	XP_011515857.1:p.Glu2575=
XM_017013612.1:c.7727_7738delinsAAGAAGATATAG	XP_016869101.1:p.Glu2576=
XM_017013613.1:c.7634_7645delinsAAGAAGATATAG	XP_016869102.1:p.Glu2545=
NM_017780.4:c.7637_7648delinsAAGAAGATATAG MANE Select	NP_060250.2:p.Glu2546=